" /> Langer mesomelic dysplasia - CISMeF





Preferred Label : Langer mesomelic dysplasia;

Symbol : LMD;

CISMeF acronym : LMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type; Dyschondrosteosis, homozygous;

Description : Langer mesomelic dysplasia (LMD) is characterized by severe limb aplasia or severe hypoplasia of the ulna and fibula, and a thickened and curved radius and tibia. These changes can result in displacement deformities of the hands and feet. Hypoplasia of the mandible is also observed (Langer, 1967). See also Leri-Weill dyschondrosteosis (127300), a less severe phenotype that results from heterozygous defect in the SHOX or SHOXY genes.;

Inheritance : Pseudoautosomal recessive;

Molecular basis : Caused by mutation in the short stature homeo box gene (SHOX, 312865.0003);

Prefixed ID : #249700;

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02/05/2025


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